Table 2.

CMT-associated ESR1 SNPs in the ESS cases and controls

SNP	NCBI SNP ID	Minor allele	Frequency of minor allele		Major allele	PRawa	PBonfb	PPermc	OR
			Cases	Controls
ESR1 INT 7-8a	ss244244344	A	0.033	0.106	G	0.002	0.021	0.018	0.3
ESR1 EX 2	rs21960513	C	0.299	0.391	T	0.033	0.362	0.042	0.7
ESR1 EX 4	ss244244343	G	0.006	0.027	A	0.052	0.568	0.155	0.2

(n = 165 and n = 94, respectively, after QC).

^aP-value from chi-square test in PLINK.

^b Bonferroni corrected for the number of LD blocks (11).

^c EMP1 value after 10,000 permutations in PLINK.